abnormal spinal cord morphology_Galc<twi-5J>/Galc<twi-5J>

http://metadb.riken.jp/0000955BXD32TyJGalctwi5JJGalctwi5JGalctwi5JGalctwi5J

abnormal spinal cord morphology_Galc<twi-5J>/Galc<twi-5J>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• galactosylceramidase
  http://metadb.riken.jp/db/mgi_rdf/MGI:95636

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Galc<twi-5J>/Galc<twi-5J>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Galc<twi-5J>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• BXD32/TyJ-Galc<twi-5J>/J

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal spinal cord morphology
  http://purl.obolibrary.org/obo/MP_0000955

文献

http://purl.org/net/cito/citesAsAuthority

• Gregory B. Potter, et.al., Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23620143